| URN | urn:agi-llid:5378 |
|---|---|
| Total Entities | 0 |
| Connectivity | 48 |
| Name | Pms1 |
| Description | PMS1 postmeiotic segregation increased 1 (S. cerevisiae) |
| Notes | The protein encoded by this gene was identified by its homology to a yeast protein involved in DNA mismatch repair. A role for this protein in mismatch repair has not been proven. However, the protein forms heterodimers with MLH1, a DNA mismatch repair protein, and some cases of hereditary nonpolyposis colorectal cancer have been found to have mutations in this gene. |
| Ariadne Ontology | DNA repair |
|---|
| GO Molecular Function | MutSalpha complex binding |
|---|---|
| ATP binding | |
| DNA binding | |
| single-stranded DNA binding | |
| mismatched DNA binding | |
| ATPase activity |
| GO Cellular Component | MutLalpha complex |
|---|---|
| mismatch repair complex | |
| nucleus |
| GO Biological Process | reciprocal meiotic recombination |
|---|---|
| ATP catabolic process | |
| mismatch repair | |
| response to drug |
| Pathway | Single-Strand Mismatch DNA Repair |
|---|---|
| colorectal cancer pathway | |
| colorectal cancer pathway |
| Group | DNA repair |
|---|---|
| reciprocal meiotic recombination | |
| ATP catabolic process | |
| mismatch repair | |
| response to drug | |
| MutSalpha complex binding | |
| ATP binding | |
| DNA binding | |
| single-stranded DNA binding | |
| mismatched DNA binding | |
| ATPase activity | |
| MutLalpha complex | |
| mismatch repair complex | |
| nucleus |
| MedScan ID | 5378 |
|---|
| Hugo ID | 9121 |
|---|
| Human chromosome position | 2q31.1 |
|---|---|
| 2q31-q33 |
| LocusLink ID | 5378 |
|---|---|
| 227099 | |
| 494322 |
| Alias | PMSL1 |
|---|---|
| hPMS1 | |
| HNPCC3 | |
| PMS1 protein homolog 1 | |
| mismatch repair gene PMSL1 | |
| human homolog of yeast mutL | |
| DNA mismatch repair protein PMS1 | |
| rhabdomyosarcoma antigen MU-RMS-40.10B | |
| rhabdomyosarcoma antigen MU-RMS-40.10E | |
| PMS1 postmeiotic segregation increased 1 | |
| Postmeiotic segregation increased -like I | |
| PMS1 postmeiotic segregation increased 1 (S. cerevisiae) | |
| PMS1 postmeiotic segregation increased I | |
| PMS1 postmeiotic segregating increased I | |
| PMS1 protein homolog I | |
| PMSL I | |
| postmeiotic segregating 1 | |
| postmeiotic segregating increased 1 | |
| postmeiotic segregating increased I | |
| postmeiotic segregation 1 | |
| postmeiotic segregation I | |
| postmeiotic segregation increased 1 | |
| postmeiotic segregation increased 1 (S. cerevisiae) | |
| Postmeiotic segregation increased -like 1 | |
| PMS1 postmeiotic segregating increased 1 (S. cerevisiae) | |
| postmeiotic segregation increased I | |
| FLJ98259 | |
| PMS1 postmeiotic segregating increased 1 | |
| postmeiotic segregating I | |
| DKFZp781m0253 | |
| hPMS I | |
| human homolog of mutL | |
| MGC36491 | |
| OTTMUSP00000024549 | |
| Pms1 | |
| DNA mismatch repair protein PMS I | |
| MGC72584 | |
| Pms I | |
| OTTMUSP00000024572 | |
| OTTHUMP00000205725 | |
| OTTHUMP00000205724 | |
| OTTHUMP00000205723 | |
| OTTHUMP00000205720 | |
| OTTHUMP00000205716 | |
| human homolog of mutL | |
| HNPCC3s | |
| PMS1 nirs variant 3 | |
| postmeiotic segregation increased (S. cerevisiae) 1 | |
| 4932436B18 | |
| hypothetical protein MGC36491 | |
| hypothetical protein 4932436B18 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 600258 |
|---|---|
| 120435 |
| Unigene ID | Hs.111749 |
|---|---|
| Mm.60499 | |
| Rn.47945 |
| KEGG ID | hsa:5378 |
|---|---|
| mmu:227099 | |
| rno:494322 |
| Swiss-Prot Accession | P54277 |
|---|---|
| Q8K119 | |
| Q6P7D0 | |
| D3DPI1 | |
| Q4VAL4 | |
| Q5FBZ3 | |
| Q5FBZ8 | |
| Q3BDU3 | |
| Q3BDU4 | |
| Q5FBZ1 | |
| Q5FBZ2 | |
| Q5FBZ4 | |
| Q5FBZ5 | |
| Q5FBZ6 | |
| Q5FBZ7 | |
| Q5FBZ9 | |
| Q5XG96 | |
| Q68DF0 | |
| Q3US89 |
| GO ID | 0005524 |
|---|---|
| 0016887 | |
| 0003677 | |
| 0032407 | |
| 0030983 | |
| 0003697 | |
| 0006200 | |
| 0006298 | |
| 0007131 | |
| 0032389 | |
| 0032300 | |
| 0005634 | |
| 0042493 | |
| 0045786 | |
| 0006974 | |
| 0003674 | |
| 0008150 | |
| 0005575 | |
| 0005525 | |
| 0006355 | |
| 0006281 |
| PIR ID | S47597 |
|---|
| Swiss-Prot ID | PMS1_HUMAN |
|---|---|
| Q5FBZ8_HUMAN | |
| Q6P7D0_RAT | |
| Q5FBZ3_HUMAN | |
| Q4VAL4_HUMAN | |
| Q8K119_MOUSE | |
| D3DPI1_HUMAN |
| Cell Localization | Nucleus |
|---|
| IPI ID | IPI00005541 |
|---|---|
| IPI00654710 | |
| IPI00896518 | |
| IPI00421583 | |
| IPI00169620 | |
| IPI00655692 | |
| IPI00479899 | |
| IPI00386764 | |
| IPI00873522 | |
| IPI00831405 | |
| IPI00831662 | |
| IPI00831570 | |
| IPI00831099 | |
| IPI00831005 | |
| IPI00565228 | |
| IPI00782442 | |
| IPI00779106 | |
| IPI00779762 | |
| IPI00777594 | |
| IPI00778231 |
| Mouse chromosome position | 1 |
|---|---|
| 1 C1.1 |
| Rat chromosome position | 9q22 |
|---|
| Homologene ID | 449 |
|---|
| MGI ID | 1202302 |
|---|
| RGD ID | 1359511 |
|---|
| Primary Cell Localization | Nucleus |
|---|